Variant report

Variant	rs495889
Chromosome Location	chr11:77118716-77118717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:
2	chr11:77118642..77120180-chr11:77121556..77123065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10793248	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899379	0.95[JPT][hapmap]
rs11607378	0.84[EUR][1000 genomes]
rs1225479	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1670459	0.82[JPT][hapmap]
rs1793476	0.82[JPT][hapmap]
rs1793483	0.82[JPT][hapmap]
rs1901821	0.82[CEU][hapmap]
rs2007466	0.82[EUR][1000 genomes]
rs2602465	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2602472	0.95[JPT][hapmap]
rs2725812	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2729762	0.86[JPT][hapmap]
rs2844333	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2853097	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3015984	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3015989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015991	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015993	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019240	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019243	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019258	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34420077	0.84[EUR][1000 genomes]
rs4433591	0.85[EUR][1000 genomes]
rs473012	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs478134	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs478475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs482243	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs487322	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs489038	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs491781	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs492527	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944153	0.81[EUR][1000 genomes]
rs4944155	0.84[EUR][1000 genomes]
rs4944158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4945162	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4945166	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs4945169	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs497172	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs497946	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs499880	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500731	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs514191	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs517511	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs538670	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs539906	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs556696	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs561153	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs562939	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs568309	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57129983	0.84[EUR][1000 genomes]
rs575662	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576079	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576997	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584909	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs599437	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs605910	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs614775	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs618012	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61901769	0.83[EUR][1000 genomes]
rs61901771	0.81[EUR][1000 genomes]
rs61901802	0.90[EUR][1000 genomes]
rs628325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs635291	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs639857	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592714	0.81[EUR][1000 genomes]
rs6592715	0.86[EUR][1000 genomes]
rs667331	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs674652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs683497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs688212	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7118869	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs721382	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73496890	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928731	0.84[EUR][1000 genomes]
rs883223	0.87[CEU][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap]
rs948971	0.84[TSI][hapmap]
rs98703	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs495889	AQP11	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
3	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
4	chr11:77095400-77121000	Weak transcription	Fetal Thymus	thymus
5	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
6	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:77103800-77121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:77111200-77120400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
13	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:77114000-77120600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:77114200-77119800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:77114400-77118800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:77116200-77118800	Enhancers	Psoas Muscle	Psoas
18	chr11:77116400-77119400	Enhancers	HUVEC	blood vessel
19	chr11:77116600-77118800	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:77116800-77119200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:77117000-77119400	Enhancers	Stomach Mucosa	stomach
22	chr11:77117200-77119400	Enhancers	HMEC	breast
23	chr11:77117200-77120400	Enhancers	Primary T cells from cord blood	blood
24	chr11:77117200-77121400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:77117200-77121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
28	chr11:77117400-77118800	Weak transcription	Dnd41	blood
29	chr11:77117400-77119000	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:77117400-77119000	Enhancers	Fetal Muscle Leg	muscle
31	chr11:77117400-77119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:77117400-77120200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:77117400-77121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:77117400-77121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:77117600-77119000	Enhancers	Pancreas	Pancrea
37	chr11:77117600-77119400	Enhancers	Fetal Intestine Large	intestine
38	chr11:77117600-77119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr11:77117600-77121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:77117600-77121200	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:77117800-77119400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:77117800-77120200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:77117800-77120400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:77117800-77121000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:77117800-77121200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:77117800-77122200	Weak transcription	Lung	lung
47	chr11:77118000-77119200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:77118200-77119200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:77118200-77119200	Enhancers	Gastric	stomach
50	chr11:77118200-77119200	Enhancers	Rectal Smooth Muscle	rectum

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